Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.E971fs

TET2

2,192 papers

RefSeq Summary

The protein encoded by this gene is a methylcytosine dioxygenase that catalyzes the conversion of methylcytosine to 5-hydroxymethylcytosine. The encoded protein is involved in myelopoiesis, and defect...

Pfam Domains

Tet_JBPaa 1290–1905UCSCOxygenase domain of the 2OGFeDO superfamily

Gene Aliases

HGNC Name

tet methylcytosine dioxygenase 2

HGNC Previous Symbol

KIAA1546

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001127208.3
p.E971fs
c.2911_2912fs
Surrounding Variants
3 papers
NM_001127208.3
p.E971*
c.2911G>T
1 paper
NM_001127208.3
p.E971fs
c.2911_2912fs
2 papers
NM_001127208.3
p.T970N
c.2909C>A
1 paper
NM_001127208.3
p.T970insFs
c.2910dupT
1 paper
NM_001127208.3
p.T970I
c.2909C>T
3 papers
NM_001127208.3
p.T970fs
c.2908_2909fs
1 paper
NM_001127208.3
p.T970P
c.2908A>C
1 paper
NM_001127208.3
p.S972fs
c.2914_2915fs
1 paper
NM_001127208.3
p.S972delFs
c.2916delT
3 papers
NM_001127208.3
p.Q969fs
c.2905_2906fs
5 papers
NM_001127208.3
p.Q969*
c.2905C>T
2 papers
NM_001127208.3
p.C973insFs
c.2917_2918insG
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."